Abstract
Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment. In this study, we report a new Ser1 12Arg mutation in thePMP22 gene, identified in a patient with early-onset CMT and slowly progressive hearing impairment beginning in the second decade of life. We suggest that the Ser1 12Arg mutation in thePMP22 gene might have a causative role in the early-onset CMT with hearing impairment. Thus, our study extends the spectrum of CMT phenotypes putatively associated withPMP22 gene mutations.
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Kabzińska, D., Sinkiewicz-Darol, E., Hausmanowa-Petrusewicz, I. et al. Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in thePMP22 gene, coexisting with a slowly progressive hearing impairment. J Appl Genet 51, 203–209 (2010). https://doi.org/10.1007/BF03195729
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DOI: https://doi.org/10.1007/BF03195729